Variant report

Variant	rs34307657
Chromosome Location	chr5:80911184-80911185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80897320..80900374-chr5:80908175..80911251,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10514230	0.95[ASN][1000 genomes]
rs10942274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10942275	0.91[ASN][1000 genomes]
rs11738820	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11743304	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11745832	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11749863	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12517941	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12521077	0.91[ASN][1000 genomes]
rs12521151	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13157978	0.93[ASN][1000 genomes]
rs13158214	1.00[ASN][1000 genomes]
rs13170372	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13171787	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13173845	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13184174	0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13436668	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1971177	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060584	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34365981	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34870295	0.88[ASN][1000 genomes]
rs35340025	0.85[EUR][1000 genomes]
rs35862056	0.97[ASN][1000 genomes]
rs62366269	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62368677	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62368679	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6887473	0.88[ASN][1000 genomes]
rs71636282	0.95[ASN][1000 genomes]
rs72773052	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7707981	1.00[ASN][1000 genomes]
rs7711576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720445	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7726379	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80887000-80922400	Weak transcription	Psoas Muscle	Psoas
2	chr5:80887200-80911200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:80895800-80912000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:80895800-80922600	Weak transcription	Fetal Heart	heart
6	chr5:80897200-80911800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:80897600-80922400	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:80899400-80915400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:80900400-80911200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:80903600-80911600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:80904000-80915000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:80905000-80921400	Weak transcription	NHDF-Ad	bronchial
13	chr5:80905200-80926000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:80905400-80912000	ZNF genes & repeats	Dnd41	blood
15	chr5:80905800-80916000	Weak transcription	Fetal Brain Male	brain
16	chr5:80905800-80922200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:80906000-80911200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:80906000-80911200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:80906000-80912600	Weak transcription	Brain Substantia Nigra	brain
20	chr5:80906000-80913600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:80906000-80918000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:80906000-80927000	Weak transcription	Gastric	stomach
23	chr5:80906000-80929400	Weak transcription	Fetal Brain Female	brain
24	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
26	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:80906200-80913800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:80906200-80918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:80906200-80918200	Weak transcription	Fetal Stomach	stomach
30	chr5:80906200-80922200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:80906200-80922200	Weak transcription	HSMMtube	muscle
32	chr5:80906200-80923600	Weak transcription	Ovary	ovary
33	chr5:80906200-80925000	Weak transcription	Pancreas	Pancrea
34	chr5:80906200-80926600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:80906200-80927000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:80906200-80927200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:80906200-80927600	Weak transcription	Lung	lung
38	chr5:80906200-80930600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr5:80906200-80933000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
41	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
42	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
43	chr5:80906400-80913000	Weak transcription	Fetal Intestine Large	intestine
44	chr5:80906400-80913600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:80906400-80921600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:80906400-80926000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr5:80906600-80922200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:80906800-80911400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:80907600-80921800	Weak transcription	Muscle Satellite Cultured Cells	--

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